Agenesis of the lacrimal and salivary glands is an autosomal dominant disorder associated with mutations in the fibroblast growth factor 10 (FGF10) gene. Agenesis of lacrimal and salivary glands has variable expressivity, and the clinical findings include both lacrimal outflow abnormalities and aplasia or hypoplasia of the parotid, submandibular, sublingual, and lacrimal glands. From the absence of lacrimal glands, patients may present with ocular irritation and recurrent eye infections. Patients with nasolacrimal duct obstruction may also note increased ocular irritation and discharge, which is optimally treated with dacryocystectomy. The authors’ patient is a 30-year-old male who presented with a chief complaint of bilateral “blocked tear ducts.” Palpation of the lacrimal sac demonstrated dacryocystocele with reflux bilaterally. A coronal view (Fig. 1A) and axial view (Fig. 1B) of the patient’s computed tomography maxillofacial demonstrates bilateral dacryocystoceles without intranasal cysts (blue arrows) and absence of both lacrimal glands (yellow arrows). Absence of the paLrotid glands (red arrows) and teeth (green arrows) can be seen in Figure 2A. The parotid gland is normally seen as a hypoattenuating region surrounding the muscle of mastication, and the absence of the parotid gland can be appreciated by the homogenous appearance of the soft tissues surrounding the mandible. The absence of the salivary glands can lead to dental caries, dental erosions, and loss of dentition, which can be further seen in the 3-dimensional rendering of the computed tomography scan (Fig. 2B).

To evaluate the surgical intervention and its effect on congenital dacryocystocele.

Methods:

A total of 531 children with congenital dacryocystocele admitted to the Department of Ophthalmology of Beijing Children’s Hospital, Shanghai Aier Eye Hospital, Nanjing Aier Eye Hospital, and the First Affiliated Hospital of Jinzhou Medical University between January 2007 and January 2017 were retrospectively analyzed.

Results:

A total of 531 patients were followed up for 3–24 months, with an average of 13.3 months. No serious intraoperative complications (such as bleeding and tissue damage) and postoperative complications (bleeding, infection, and hole atresia) were found. We classified the outcomes into three categories based on the signs (overflowing tears and empyema) and objective routine follow-up by endoscopy. Cure indicated that mass, overflow of tears, and breathing difficulties disappeared, and 81.5% cases (433/531) were postoperatively cured. Improvement indicated disappearance of mass, overflow empyema, and the presence of residual tears (due to trocar and tears puncture), and 18.5% cases (98/531) were postoperatively improved. Unhealed indicated overflowing pus and tears, and 0% cases did not heal after surgery.

Conclusions:

Nasal endoscopic surgery is relatively safe, with high success rate for treatment of congenital dacryocystocele. Systematic training is required to promote the application of nasal endoscopy, so that more ophthalmologists can learn this technique.

A 9-month-old male presented with gradual right medial canthus swelling since age 3 months. On examination, there was a medial cystic orbital mass causing significant telecanthus and lateral displacement of the right globe (Fig. A). There was limited adduction of the right eye and exotropia. The patient was able to fix and follow a penlight. The pupils were briskly reactive in both eyes, and there was no relative afferent pupillary defect. The anterior and fundus examinations were normal in both eyes. Endonasal exam was unremarkable. An axial and coronal computed tomography scan (Fig. B,C) showed a large (3.7 × 2.3 × 3.5 cm) medial cystic lesion arising from the lacrimal system. There were no bony defects or encephalocele noted. The patient underwent nasolacrimal duct probing, which was unsuccessful as the probe was unable to pass into the nasolacrimal duct. Dacryocystorhinostomy resulted in decompression of the dacryocystocele and return of normal eye position.

Congenital dacryocystocele is seen in the setting of nasolacrimal duct obstruction in the neonatal period. As in this case, goblet cells lining the lacrimal sac can continuously secrete mucous and cause dacryocystocele enlargement over time. Complications include infection, intranasal extension, airway obstruction (if bilateral), and rarely intraorbital extension. Massive orbital extension of a dacryocystocele can mimic other orbital masses, including encephalocele, dermoid cyst, or neoplasms, and may require adjunctive imaging for diagnosis.

An 18-day-old female neonate presented to clinic with bilateral enlarging infraorbital bluish masses and mucopurulent discharge from both eyes. She was born full term with no complications during pregnancy and delivery. The parents noticed the swelling shortly after birth, with progressive enlargement mostly on the left side associated with labored breathing. Clinical examination revealed bilateral indurated cystic lesions with a bluish hue below the medial canthi, more prominent on the left side (Figure 1). There was overlying skin, soft tissue swelling, and redness. On digital pressure, copious mucopurulent material was expressed onto the ocular surface. The ophthalmologic examination was otherwise unremarkable. The neonate was noted to have audible grunting and respiratory distress. Computed tomography scan showed bilateral large cystic lesions in the lacrimal fossa area associated with intranasal cysts. At 2 months of age, she underwent bilateral probing and irrigations and has since done well.

The medical records of all cases diagnosed with congenital dacryocystocele at a tertiary care center from 2003 to 2015 were reviewed retrospectively.

Results

Eleven cases of congenital dacryocystocele were analyzed. No accompanying fetal anatomic anomalies where detected. Mean maternal age at evaluation was 22 years of age (range, 17-32 years). Four of 10 cases were primigravidas. The mean gestational age at evaluation was 32.6 weeks’ gestational age. Ten out of 11 cases occurred in female fetuses (91%). Of the 11, 10 cases were unilateral and 1 was bilateral. The mean diameter at evaluation was 5.1 mm. Spontaneous resolution occurred in 2 cases (18%). In the remaining 9 fetuses, postnatal diagnosis of dacryocystocele were confirmed by an ophthalmologist evaluation.

Conclusions

Prenatally diagnosed congenital dacryocystocele may undergo spontaneous resolution before birth. However, a better understanding of the prenatal sonographic findings can help to appropriately orient parents of potentially affected fetuses. Referral to a pediatrician and pediatric ophthalmologist may be considered for complete evaluation and postnatal management.

Technological progress in medicine has provided earlier diagnosis, even into the prenatal period. We address ultrasonographic imaging of the prenatal eye and orbit. During development of these structures, multiple pathologies and diseases can arise. Orbital anomalies can be detected prenatally using ultrasound or magnetic resonance imaging. Some of these include congenital cataracts, hypertelorism, hypotelorism, dacryocystocele, microphthalmia, anophthalmia, orbital tumors/masses, and septo-optic dysplasia. We describe characteristic ultrasound findings of these diseases. Prenatal ocular and orbital diagnosis is best facilitated by a team approach between ophthalmology, radiology, obstetrics, neonatology, and genetic counselors to optimize diagnostic accuracy, familial expectations, and early treatment.

Technological progress in medicine has provided earlier diagnosis, even into the prenatal period. We address ultrasonographic imaging of the prenatal eye and orbit. During development of these structures, multiple pathologies and diseases can arise. Orbital anomalies can be detected prenatally using ultrasound or magnetic resonance imaging. Some of these include congenital cataracts, hypertelorism, hypotelorism, dacryocystocele, microphthalmia, anophthalmia, orbital tumors/masses, and septo-optic dysplasia. We describe characteristic ultrasound findings of these diseases. Prenatal ocular and orbital diagnosis is best facilitated by a team approach between ophthalmology, radiology, obstetrics, neonatology, and genetic counselors to optimize diagnostic accuracy, familial expectations, and early treatment.

To determine the incidence and presenting features of congenital dacryocystocele in the United Kingdom. To report on those cases complicated by dacryocystitis, respiratory compromise, and the treatment undertaken.

Methods

A prospective observational study of cases of congenital dacryocystocele presenting in the United Kingdom between September 2014 and October 2015. Infants <3 months of age presenting with a cystic swelling in the medial canthal area were included. Cases were identified via the British Ophthalmology Surveillance Unit (BOSU) reporting system.

Results

A total of 49 cases were reported during the study period. This gives an incidence of 1 in 18 597 live births. There was a 71% response rate to the questionnaire. The average age at presentation was 16.94 days. Dacryocystoceles were unilateral in 91% of cases. Dacryocystitis was a complicating factor in 49% of patients and 17% had respiratory distress. Uncomplicated dacryocystocele responded well to conservative measures in 86%. Surgical intervention was required in 23% of patients. Those cases complicated by dacryocystitis (29%) and nasal obstruction (17%) were more likely to require surgical intervention compared to those with dacryocystocele alone (14%). Digital massage appears to reduce the likelihood of requiring surgical intervention. The mean time to resolution was 19 days.

Conclusions

Congenital dacryocystocele is a rare presentation in the United Kingdom. Dacryocystitis and respiratory compromise commonly complicate a dacryocystocele. The use of digital massage as an early intervention is advocated and conservative measures may be sufficient in cases of uncomplicated dacryocystocele.

Lacrimal sac septum is a rare structural abnormality of the lacrimal system. A 15-year-old patient presented with epiphora and a mass inferior to the left medial canthal tendon. Dacryocystography and CT-dacryocystography revealed a dilated lacrimal sac with complete obstruction. A horizontal lacrimal sac septum was found in the mid-sac region during endoscopic dacryocystorhinostomy. Histopathologic examination of the septum revealed chronic inflammation with stratified columnar epithelial cell lining consistent with the lacrimal sac.

A 25-year-old man presented with a mass on the right medial canthus after a successful dacryo cys torhinostomy performed 3 years ago. On examination, there was a firm, nondepressible mass inferior to the medial canthal ligament and a linear vertical scar on the lateral wall of the nose. Syringing through the right lower punctum indicated his lacrimal system was patent. Computed tomography and magnetic resonance imaging disclosed a large cystic lesion in the lacrimal sac fossa. No bone erosion was detected. The mass was approached through a tear trough incision and completely resected. The lacrimal anastomosis that was highly placed remained patent after surgery. Histopathology of the specimen revealed a cystic lesion compatible with lacrimal origin (dacryocystocele).